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Results for the Protein: Q9NRM1
212276506

ENAM_HUMAN RecName: Full=Enamelin; Flags: Precursor

Known Diseases associated with this Protein:
  AMELOGENESIS IMPERFECTA, TYPE IB
1
6
1
5
1
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Swiss-Prot Protein: Q9NRM1
Identical to: NP_114095
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs3796704 Polymorphismp.ARG763GLNN/A
Swiss-ProtVAR_047076Polymorphismp.ASP767GLYN/A
dbSNPrs74511578 Polymorphismp.GLY389SERN/A
dbSNPrs7671281 Polymorphismp.ILE648THRN/A
dbSNPrs2609428 Polymorphismp.PHE576LEUN/A
dbSNPrs3796703 Polymorphismp.PRO724LEUN/A
OMIM606585.0002 Diseasep.LYS53TERAMELOGENESIS IMPERFECTA, TYPE IB



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